Please use this identifier to cite or link to this item: https://doi.org/10.1186/s12881-020-01094-y
Title: Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
Authors: Hettiarachchi, D.
Panchal, H.
Lai, P.S. 
Dissanayake, V.H.W.
Keywords: CHILD syndrome
Novel variant
NSDHL gene
Syndactyly
X-linked dominant
Issue Date: 2020
Publisher: BioMed Central Ltd
Citation: Hettiarachchi, D., Panchal, H., Lai, P.S., Dissanayake, V.H.W. (2020). Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report. BMC Medical Genetics 21 (1) : 164. ScholarBank@NUS Repository. https://doi.org/10.1186/s12881-020-01094-y
Rights: Attribution 4.0 International
Abstract: Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD(P) H steroid dehydrogenase-like protein and is responsible for its pathogenesis. Case presentation: The proband was a 9-month-old twin (T2) girl with a healthy twin sister (T1) of Sri Lankan origin born to non-consanguineous parents. She presented with right sided continuous icthyosiform erythroderma and ipsilateral limb defects and congenital hemidysplasia since birth. Notably the child had ipsilateral hand hypoplasia and syndactyly. There were other visceral abnormalities. We performed whole exome sequencing and found a novel heterozygous variant (NSDHL, c.713C > A, p.Thr238Asn). Conclusion: We report a novel missense variant in the NSDHL gene that resides in a highly-conserved region. This variant affects the NAD(P) H steroid dehydrogenase-like protein function via reduction in the number of active sites resulting in the CHILD syndrome phenotype and syndactyly. © 2020 The Author(s).
Source Title: BMC Medical Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/197596
ISSN: 14712350
DOI: 10.1186/s12881-020-01094-y
Rights: Attribution 4.0 International
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