Open AccessAutosomal recessive cutis laxa Type II: Report of novel mutation in a child
Author(s) -
Rakesh Kumar,
Sheetal Sharda,
Vimlesh Soni,
Kaniyappan Nambiyar
Publication year - 2017
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/idoj.idoj_334_16
Subject(s) - cutis laxa , medicine , hypotonia , mutation , dermatology , growth retardation , pediatrics , facial dysmorphism , genetics , gene , pregnancy , phenotype , biology
Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.