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Phenotype of 1p36.11-p35.3 interstitial deletion encompassing AHDC1 gene
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e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 4 5 ee 6 6
P1-66 A patient with delayed development resulting from De Novo duplication of 7q36.1-q36.3 and deletion of 9p24.3 Ja-Young Oh, Dae-Hyun Jang, Myungshin Kim. Department of Rehabilitation, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea Objective: Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both these mutations concurrently have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. Methods: A case report. Results: A 6-year-old male patient was transferred to our institution from a local hospital for evaluation about developmental delay, particularly speech and language. He could communicate by using about 10 words, and not make any sentence. Moreover, writing and reading were not achieved, and only he could draw a circle. In terms of growth, he has shown some delay. When the patient visited our clinic, his weight was 17.8kg (< 3th centile), height was 115.8cm (10e15th centile) and head circumference was 48.5cm (<3th centile). The patient was born at 35 weeks of gestation with uneventful pregnancy, and weight at birth was 2400g (<3th centile). The parents were healthy and there was no remarkable finding in his pedigree. He had hospitalized several times, because of recurrent episodes of pneumonia, until the age of 3. Independent gait could be made, when he was 36 month. Chromosome analysis and array CGH analysis showed 46, XY, duplication of 7q36.1-q36.3 and deletion of 9p24.3. The duplication was estimated to be 9.9 Mb in size and 68 known genes were included. The duplicated genome base pairs of chromosome 7 spanned 149,128,443159,088,636. The deletion of chromosome 9 was calculated to be 1.9 Mb in size including 6 known genes. The deleted genome base pairs were estimated to be 271,257-2,183,334. Array CGH analysis of both parents showed no specific findings. Conclusion: Further cumulative data based on the molecular approach are warranted to understand the role and influence of the genes in the 7q36.1q36.3 duplication and 9p24.3 deletion regions.
http://dx.doi.org/10.1016/j.ejpn.2017.04.884 P1-67 Phenotype of 1p36.11-p35.3 interstitial deletion encompassing AHDC1 gene Hae-Yeon Park MD, Dae-Hyun Jang MD, PhD, Myungshin Kim MD, PhD, Woori Jang M.D. Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Republic of Korea Objective: 1p36 deletion syndrome is the most common terminal chromosomal deletion in humans. In most of 1p36 deletion syndrome, the end of the chromosome (distal critical region) or proximal critical region (1p36.23e1p36.11) is missing. We describe here the case with 1p36.11-p35.3 interstitial deletion, the region more proximal than reported cases. Methods: 12 months-old male patient presented with developmental delay and decreased tone. Brain magnetic resonance imaging showed thinning of corpus callosum, and electromyography showed no abnormality. He was referred to genetic clinic for evaluation. Chromosome analysis revealed 46, XY at the 550 band level. Array comparative genomic
hybridization (CGH) revealed de novo 1p36.11-p35.3 interstitial deletion. Array CGH of the parents showed no abnormality. The deletion was estimated to be 1Mb in size. Results: By searching Developmental Disorders Genotype-Phenotype Database, we found that only one gene, AHDC1 gene, is confirmed as causing developmental disorder. AHDC1 encodes protein, which is located on the short arm of chromosome 1(1p36.1ep35.3). Conclusion: In 2014, Fan Xia et al. reported four unrelated children with mental retardation, who exhibited clinical features of developmental delay, hypotonia, mild dysmorphic features, and etc. With wholeexome sequencing, they found mutations in AHDC1 gene. In our case, there was deletion in 1p36.11-p35.3, where AHDC1 gene is located, and the phenotypes of the patient were similar to those with de novo truncated mutations in AHDC1 gene. Further cumulative data based on the molecular approach are needed to understand the role and influence of the AHDC1 gene with 1p36.11-p35.3 interstitial deletion.
http://dx.doi.org/10.1016/j.ejpn.2017.04.885 P1-68 A case report of a patient with interstitial duplication of 10p12.1 and 15q11.2q13.1 Hae-Yeon Park MD, Dae-Hyun Jang MD, PhD, Myungshin Kim MD, PhD. Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Republic of Korea Objective: 15q duplication syndrome is caused by one extra copy of Prader-Willi/Angelman critical region within chromosome 15q11.2q13.1. Compared to 15q duplication syndrome, there are no reported cases of 10p12.1 interstitial duplication. Here, we present a case with interstitial duplication of 10p12.1 and 15q11.2q13.1, together. Methods: 3 months-old male patient presented with decreased tone with poor head control. He started physical therapy, but he could not walk by the age of 17 months. Brain magnetic resonance imaging showed unremarkable finding. Sleep electroencephalogram showed activity consistent with partial seizures. He was referred to the genetic clinic, and chromosome analysis revealed 46, XY at the 550 band level. Array comparative genomic hybridization (CGH) revealed interstitial duplication of 10p12.1 and 15q11.2q13.1, together. The duplication of chromosome 10 was estimated to be 0.8Mb and contained about 5 known genes. The duplication of chromosome 15 was calculated to be 5.7Mb, including 18 known genes. Results: This is the first case report of interstitial duplication at both 10p12.1 and 15q11.2q13.1, together. By searching Developmental Disorders Genotype- Phenotype Database (DDG2P), we found that 2 genes (ARMC4, RAB18) were related with chromosome 10, and 3 genes (GABRB3, MAGEL2, UBE3A) were related with chromosome 15. The phenotype of hypotonia, delayed development, cognitive impairment are all related with previously known 15q duplication syndrome features. However, RAB18 gene at 10p12.1 is also related with mental retardation and hypotonia. Conclusion: Further cumulative data are needed to understand the role and influence of the genes in interstitial duplication of 10p12.1 and 15q11.2q13.1, together.
http://dx.doi.org/10.1016/j.ejpn.2017.04.886
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 4 5 ee 6 6
P1-66 A patient with delayed development resulting from De Novo duplication of 7q36.1-q36.3 and deletion of 9p24.3 Ja-Young Oh, Dae-Hyun Jang, Myungshin Kim. Department of Rehabilitation, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea Objective: Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both these mutations concurrently have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. Methods: A case report. Results: A 6-year-old male patient was transferred to our institution from a local hospital for evaluation about developmental delay, particularly speech and language. He could communicate by using about 10 words, and not make any sentence. Moreover, writing and reading were not achieved, and only he could draw a circle. In terms of growth, he has shown some delay. When the patient visited our clinic, his weight was 17.8kg (< 3th centile), height was 115.8cm (10e15th centile) and head circumference was 48.5cm (<3th centile). The patient was born at 35 weeks of gestation with uneventful pregnancy, and weight at birth was 2400g (<3th centile). The parents were healthy and there was no remarkable finding in his pedigree. He had hospitalized several times, because of recurrent episodes of pneumonia, until the age of 3. Independent gait could be made, when he was 36 month. Chromosome analysis and array CGH analysis showed 46, XY, duplication of 7q36.1-q36.3 and deletion of 9p24.3. The duplication was estimated to be 9.9 Mb in size and 68 known genes were included. The duplicated genome base pairs of chromosome 7 spanned 149,128,443159,088,636. The deletion of chromosome 9 was calculated to be 1.9 Mb in size including 6 known genes. The deleted genome base pairs were estimated to be 271,257-2,183,334. Array CGH analysis of both parents showed no specific findings. Conclusion: Further cumulative data based on the molecular approach are warranted to understand the role and influence of the genes in the 7q36.1q36.3 duplication and 9p24.3 deletion regions.
http://dx.doi.org/10.1016/j.ejpn.2017.04.884 P1-67 Phenotype of 1p36.11-p35.3 interstitial deletion encompassing AHDC1 gene Hae-Yeon Park MD, Dae-Hyun Jang MD, PhD, Myungshin Kim MD, PhD, Woori Jang M.D. Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Republic of Korea Objective: 1p36 deletion syndrome is the most common terminal chromosomal deletion in humans. In most of 1p36 deletion syndrome, the end of the chromosome (distal critical region) or proximal critical region (1p36.23e1p36.11) is missing. We describe here the case with 1p36.11-p35.3 interstitial deletion, the region more proximal than reported cases. Methods: 12 months-old male patient presented with developmental delay and decreased tone. Brain magnetic resonance imaging showed thinning of corpus callosum, and electromyography showed no abnormality. He was referred to genetic clinic for evaluation. Chromosome analysis revealed 46, XY at the 550 band level. Array comparative genomic
hybridization (CGH) revealed de novo 1p36.11-p35.3 interstitial deletion. Array CGH of the parents showed no abnormality. The deletion was estimated to be 1Mb in size. Results: By searching Developmental Disorders Genotype-Phenotype Database, we found that only one gene, AHDC1 gene, is confirmed as causing developmental disorder. AHDC1 encodes protein, which is located on the short arm of chromosome 1(1p36.1ep35.3). Conclusion: In 2014, Fan Xia et al. reported four unrelated children with mental retardation, who exhibited clinical features of developmental delay, hypotonia, mild dysmorphic features, and etc. With wholeexome sequencing, they found mutations in AHDC1 gene. In our case, there was deletion in 1p36.11-p35.3, where AHDC1 gene is located, and the phenotypes of the patient were similar to those with de novo truncated mutations in AHDC1 gene. Further cumulative data based on the molecular approach are needed to understand the role and influence of the AHDC1 gene with 1p36.11-p35.3 interstitial deletion.
http://dx.doi.org/10.1016/j.ejpn.2017.04.885 P1-68 A case report of a patient with interstitial duplication of 10p12.1 and 15q11.2q13.1 Hae-Yeon Park MD, Dae-Hyun Jang MD, PhD, Myungshin Kim MD, PhD. Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Republic of Korea Objective: 15q duplication syndrome is caused by one extra copy of Prader-Willi/Angelman critical region within chromosome 15q11.2q13.1. Compared to 15q duplication syndrome, there are no reported cases of 10p12.1 interstitial duplication. Here, we present a case with interstitial duplication of 10p12.1 and 15q11.2q13.1, together. Methods: 3 months-old male patient presented with decreased tone with poor head control. He started physical therapy, but he could not walk by the age of 17 months. Brain magnetic resonance imaging showed unremarkable finding. Sleep electroencephalogram showed activity consistent with partial seizures. He was referred to the genetic clinic, and chromosome analysis revealed 46, XY at the 550 band level. Array comparative genomic hybridization (CGH) revealed interstitial duplication of 10p12.1 and 15q11.2q13.1, together. The duplication of chromosome 10 was estimated to be 0.8Mb and contained about 5 known genes. The duplication of chromosome 15 was calculated to be 5.7Mb, including 18 known genes. Results: This is the first case report of interstitial duplication at both 10p12.1 and 15q11.2q13.1, together. By searching Developmental Disorders Genotype- Phenotype Database (DDG2P), we found that 2 genes (ARMC4, RAB18) were related with chromosome 10, and 3 genes (GABRB3, MAGEL2, UBE3A) were related with chromosome 15. The phenotype of hypotonia, delayed development, cognitive impairment are all related with previously known 15q duplication syndrome features. However, RAB18 gene at 10p12.1 is also related with mental retardation and hypotonia. Conclusion: Further cumulative data are needed to understand the role and influence of the genes in interstitial duplication of 10p12.1 and 15q11.2q13.1, together.
http://dx.doi.org/10.1016/j.ejpn.2017.04.886