A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease : a case report and review of literature

BACKGROUND: SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility 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.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:21

Enthalten in:

BMC medical genetics - 21(2020), 1 vom: 31. Okt., Seite 215

Sprache:

Englisch

Beteiligte Personen:

Sun, Liying [VerfasserIn]
Zhang, Qianwen [VerfasserIn]
Li, Qun [VerfasserIn]
Tang, Yijun [VerfasserIn]
Wang, Yirou [VerfasserIn]
Li, Xin [VerfasserIn]
Li, Niu [VerfasserIn]
Wang, Jian [VerfasserIn]
Wang, Xiumin [VerfasserIn]

Links:

Volltext

Themen:

Case report
Class Ia Phosphatidylinositol 3-Kinase
Codon, Nonsense
EC 2.7.1.-
EC 2.7.1.137
Journal Article
Novel variant
PIK3R1 gene
PIK3R1 protein, human
Research Support, Non-U.S. Gov't
SHORT syndrome
Whole-exome sequencing

Anmerkungen:

Date Completed 08.01.2021

Date Revised 07.12.2022

published: Electronic

Citation Status MEDLINE

doi:

10.1186/s12881-020-01146-3

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM31697711X