In:
American Journal of Medical Genetics Part A, Wiley, Vol. 188, No. 5 ( 2022-05), p. 1635-1638
Kurzfassung:
We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G 〉 A (p.Ala486Thr) at PIK3R1 . Human recombinant growth hormone (r‐hGH) therapy was administered prior to diagnosis; however, the use of r‐hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.
Materialart:
Online-Ressource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v188.5
DOI:
10.1002/ajmg.a.62660
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2022
ZDB Id:
1493479-6
SSG:
12
