A170P mutation inSHOXgene in a patient not presenting with Madelung deformity: Figure 1

Abstract

Idiopathic short stature is a multifactorial disease caused by defects in several genes. Among them, short stature homeobox-containing gene (SHOX) mutations have an incidence of 2%-15% within the idiopathic short population. The authors report a patient with moderate intellectual disability, short stature and no other radiological traits referred for subtelomeric screening. MLPA and sequencing results showed a heterozygous mutation in SHOX gene (A170P). This mutation has been described to fully cosegregate with Madelung deformity in patients affected with Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. The authors report the first case of idiopathic short stature due to the A170P mutation in a patient without any radiological trait. The A170P mutation is the most prevalent mutation in the Spanish gypsy population affected with short stature disorders. The authors strongly recommend SHOX screening for deletions, duplications and point mutations in patients affected with short stature although they do not present any radiological traits.

A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány

“…A gént 1997-ben, egymástól függetlenül fedezte fel két kutatócsoport [4]. A 40 kb hosszúságú SHOX gén a humán genomban az X-(Xp22.3) és Y-(Zp11.3) kromoszómák pszeudoautoszomális régiójában (PAR1), a nemi kromoszómák telomerjeitől 500 kb-nyi távolságra talál-ható [5][6][7][8]. Elhelyezkedésének köszönhetően elkerüli az X-kromoszóma inaktiválódását, így a hibáihoz tartozó betegségek öröklődésmenetére a pszeudoautoszomális mód jellemző [9], ezért a gén kifejeződésének mértéke a férfi és a női szervezetben megegyezik.…”

Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

“…Nowadays more than 200 genes are known to be involved in the aetiology of syndromes characterised by short stature [1,2]. SHOX gene haploinsufficiency is one of the most common monogenic causes of SS which have been described in 2-15% of ISS cases, in 50-90% of patients with Leri-Weill dyschondrosteosis (LWD; OMIM #127300) and 40% of patients presenting Langer mesomelic dysplasia (LMD) [3,4]. The SHOX gene is located in the pseudoautosomal region 1 (PAR1) of the short arm of the X and Y chromosomes (Xp22.33, Yp11.32) [5,6].…”

Radiological signs of Léri-Weill dyschondrosteosis present in the A170P carrier

“…After reading the article entitled ‘A170P mutation in SHOX gene in a patient not presenting with Madelung deformity’ in the Journal of Clinical Pathology , I would like to comment on a few important statements and points raised by Álvarez-Mora et al ,1 who incidentally identified the SHOX A170P mutation in a 30-year-old woman who belongs to a Spanish gypsy family while looking for the genetic cause of her moderate intellectual disability. In their article, they state that the reported case is the first A170P carrier who did not present the Madelung deformity or any bone dysplasia.…”