We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving the region 2q13-q14.2. She was the only daughter of unrelated parents and came to our observation for postnatal growth retardation, moderate mental retardation and minor dysmorphisms. At the age of 13+6/12 years, weight was Kg 37 (3-Y10- centile), height 133 cm (GG3- centile) and OFC 53,1 cm (50- centile). She presented with short stature, triangular face with bitemporal narrowing, webbed neck and a low posterior hairline, drooping eyelids, thin nose, highly arched palate, shield chest, mild cubitus valgus, multiple pigmented nevi, atrial septal defect, and mild hypothyroidism. Overall, the phenotype was evocative of Turner syndrome. Two independent postnatal karyotypes on peripheral blood and cytogenetic investigation of cutaneous fibroblasts were normal, thus excluding chromosomal mosaicism. Molecular analysis of the SHOX gene was normal. Array-CGH analysis allowed us to identify and characterize a 2q de novo interstitial deletion of about 8 Mb with proximal and distal breakpoints at 113,120 Mb and 122,079 Mb, respectively. The deleted region contains several genes, among which PAX8 and INHBB. PAX8 is involved in thyroid follicular cell development and expression of thyroid-specific genes, and loss of function mutations affecting it cause a form of hypothyroidism. INHBB codes for a bB subunit of activin dimers. Activins are TGF-b superfamily members, that act as regulators of growth and differentiation in several tissues and cell types. Inhibins/activins are involved in regulating a number of diverse functions, such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, insulin secretion, nerve cell survival, embryonic axial development and bone growth, depending on their subunit composition. Therefore, INHBB may be a good candidate to explain the growth retardation observed in this patient.

A de novo 2q interstitial deletion in a patient with a Turner phenotype / Giglio, S.; Andreucci, E.; Ricca, I.; Guarducci, S.; Ricci, U.; Sani, I.; Nanni, L.; Seminara, S.; Genuardi and O Zuffardi, M. Genuardi and O. Zuffardi. - In: CHROMOSOME RESEARCH. - ISSN 0967-3849. - STAMPA. - 15:(2007), pp. 265-266.

A de novo 2q interstitial deletion in a patient with a Turner phenotype

GIGLIO, SABRINA RITA;ANDREUCCI, ELENA;SEMINARA, SALVATORE;
2007

Abstract

We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving the region 2q13-q14.2. She was the only daughter of unrelated parents and came to our observation for postnatal growth retardation, moderate mental retardation and minor dysmorphisms. At the age of 13+6/12 years, weight was Kg 37 (3-Y10- centile), height 133 cm (GG3- centile) and OFC 53,1 cm (50- centile). She presented with short stature, triangular face with bitemporal narrowing, webbed neck and a low posterior hairline, drooping eyelids, thin nose, highly arched palate, shield chest, mild cubitus valgus, multiple pigmented nevi, atrial septal defect, and mild hypothyroidism. Overall, the phenotype was evocative of Turner syndrome. Two independent postnatal karyotypes on peripheral blood and cytogenetic investigation of cutaneous fibroblasts were normal, thus excluding chromosomal mosaicism. Molecular analysis of the SHOX gene was normal. Array-CGH analysis allowed us to identify and characterize a 2q de novo interstitial deletion of about 8 Mb with proximal and distal breakpoints at 113,120 Mb and 122,079 Mb, respectively. The deleted region contains several genes, among which PAX8 and INHBB. PAX8 is involved in thyroid follicular cell development and expression of thyroid-specific genes, and loss of function mutations affecting it cause a form of hypothyroidism. INHBB codes for a bB subunit of activin dimers. Activins are TGF-b superfamily members, that act as regulators of growth and differentiation in several tissues and cell types. Inhibins/activins are involved in regulating a number of diverse functions, such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, insulin secretion, nerve cell survival, embryonic axial development and bone growth, depending on their subunit composition. Therefore, INHBB may be a good candidate to explain the growth retardation observed in this patient.
2007
Giglio, S.; Andreucci, E.; Ricca, I.; Guarducci, S.; Ricci, U.; Sani, I.; Nanni, L.; Seminara, S.; Genuardi and O Zuffardi, M. Genuardi and O. Zuffardi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1061759
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