Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 179, Issue 6, Pages 1010-1014Publisher
WILEY
DOI: 10.1002/ajmg.a.61018
Keywords
Joubert syndrome; molar tooth sign; OFD1; Orofaciodigital syndrome; pituitary aplasia
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Orofaciodigital syndrome type I and X-linked recessive Joubert syndrome are known ciliopathic disorders that are caused by pathogenic variants in OFD1 gene. Endocrine system involvement with these conditions is not well described. We present the first report of a newborn male with a novel hemizygous variant in OFD1 gene c.515T>C, (p.Leu172Pro) resulting in X-linked Joubert syndrome and orofaciodigital features with complete pituitary gland aplasia and subsequent severe hypoplasia of peripheral endocrine glands. This clinical report expands the phenotypic spectrum of endocrine system involvement in OFD1-related disorders and suggests that OFD1 gene may be related to pituitary gland development.
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