A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of
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CASE REPORT
Open Access
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature Liying Sun1†, Qianwen Zhang2†, Qun Li2, Yijun Tang2, Yirou Wang2, Xin Li2, Niu Li3, Jian Wang3 and Xiumin Wang2*
Abstract Background: SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1. Case presentation: The proband was admitted to our department due to irregular menstrual cycle and hirsutism with short stature, who had a history of intrauterine growth restriction and presented with short stature, teething delay, characteristic facial gestalts, hirsutism, and thyroid disease. Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. Gln654*). Conclusions: This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. Gln654*). The phenotypes are mildly different from other cases previously described in the literature, in which our patient presents with lipoatrophy, facial feature, and first reported thyroid disease. Thyroid disease may be a new clinical symptom of patients with SHORT syndrome. Keywords: SHORT syndrome, PIK3R1 gene, Whole-exome sequencing, Novel variant, Case report
Background SHORT syndrome (MIM 269880; ORPHA:3163) is a rare genetic disease whose name is given by Gorlin [1] with the acronyms of short stature (S), hyperextensibility of joints (H), ocular depression (O), Rieger anomaly (R) * Correspondence: [email protected] † Liying Sun and Qianwen Zhang are Co-first author, these authors contributed equally to the study. 2 Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China Full list of author information is available at the end of the article
and teething delay (T) [2, 3]. A few cases have been reported in the literature, but the prevalence of SHORT syndrome remains unclear (< 1:1000000) [4]. The phenotypic presentation most frequently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR), short stature, and a characteristic facial gestalt (e.g. triangular face with a small thin, thin lip, downturned mouth, low-set posteriorly rotated ears, prominent forehead, underdeveloped or thin nasal alae as well as wrinkles) [3–6]. Lipodystrophy, characterized
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