Interfamilial and Intrafamilial Variability of Clinical Expression in ADPKD1

2015 ◽  
pp. 97-101 ◽  
Author(s):  
R. Torra ◽  
A. Darnell ◽  
X. Estivill ◽  
A. Botey ◽  
L. Revert
Keyword(s):  
Clinical Expression ◽  
Intrafamilial Variability

scholarly journals Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

2021 ◽  
Author(s):  
Atif Towheed ◽  
Christian L. Hietanen ◽  
Vasudeva G. Kamath ◽  
Larry N. Singh ◽  
Angela Ho ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Clinical Expression ◽  
Intrafamilial Variability

scholarly journals Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 706
Author(s):  
Angela Sparago ◽  
Flavia Cerrato ◽  
Laura Pignata ◽  
Francisco Cammarata-Scalisi ◽  
Livia Garavelli ◽  
...  
Keyword(s):  
Cellular Proliferation ◽  
Missense Variant ◽  
Abdominal Wall Defects ◽  
Loss Of Function ◽  
Nonsense Mutations ◽  
Molecular Defects ◽  
Variable Expressivity ◽  
Imprinting Disorder ◽  
Perinatal Lethality ◽  
Intrafamilial Variability

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition. CDKN1C is a maternally expressed gene of the 11p15.5 chromosomal region and is regulated by the imprinting control region IC2. It negatively controls cellular proliferation, and its expression or activity are frequently reduced in BWS. In particular, loss of IC2 methylation is associated with CDKN1C silencing in the majority of sporadic BWS cases, and maternally inherited loss-of-function variants of CDKN1C are the most frequent molecular defects of familial BWS. We have identified, using Sanger sequencing, novel CDKN1C variants in three families with recurrent cases of BWS, and a previously reported variant in a woman with recurrent miscarriages with exomphalos. Clinical evaluation of the patients showed variable manifestation of the disease. The frameshift and nonsense variants were consistently associated with exomphalos, while the missense variant caused a less severe phenotype. Pregnancy loss and perinatal lethality were found in the families segregating nonsense mutations. Intrafamilial variability of the clinical BWS features was observed, even between siblings. Our data are indicative of severe BWS phenotypes that, with variable expressivity, may be associated with both frameshift and nonsense variants of CDKN1C.

scholarly journals A Large Multiple Endocrine Neoplasia Type 1 Family with Clinical Expression Suggestive of Anticipation1

1997 ◽  
Vol 82 (10) ◽  
pp. 3487-3492 ◽  
Author(s):  
Sophie Giraud ◽  
Hélène Choplin ◽  
Bin Tean Teh ◽  
James Lespinasse ◽  
Anne Jouvet ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Clinical Expression ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

2005 ◽  
Vol 253 (1) ◽  
pp. 21-25 ◽  
Author(s):  
I. Cuscó ◽  
M. J. Barceló ◽  
R. Rojas–García ◽  
I. Illa ◽  
J. Gámez ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Copy Number ◽  
Muscular Atrophy ◽  
Intrafamilial Variability ◽  
Chronic Spinal Muscular Atrophy
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