A new heritable fragile site at 15q13 in a three-generation family

The case of a 63-year-old severely mentally handicapped man is reported with chromosomal mosaicism. His karyotype was established as mosaic 46XY/47XXY with the fragile site present in a proportion of cells of both cell-lines. He showed phenotypic features which could be related both to the fragile-X and Klinefelter's syndromes.

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Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Genes ◽

10.3390/genes12040512 ◽

2021 ◽

Vol 12 (4) ◽

pp. 512

Author(s):

Aleksandra Gilis-Januszewska ◽

Anna Bogusławska ◽

Kornelia Hasse-Lazar ◽

Beata Jurecka-Lubieniecka ◽

Barbara Jarząb ◽

...

Keyword(s):

Neuroendocrine Tumor ◽

Clinical Presentation ◽

Age Of Onset ◽

Malignant Tumors ◽

Genetic Disorder ◽

Family Members ◽

Pancreatic Neuroendocrine Tumor ◽

Index Patient ◽

Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

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X-linked mental retardation, macro-orchidism, and the Xq27 fragile site

The Journal of Pediatrics ◽

10.1016/s0022-3476(80)80552-x ◽

1980 ◽

Vol 96 (5) ◽

pp. 837-841 ◽

Cited By ~ 182

Author(s):

Gillian Turner ◽

Art Daniel ◽

Michael Frost

Keyword(s):

Mental Retardation ◽

Fragile Site

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The FRA16D common chromosomal fragile site co-localizes with a region of LOH on chromosome 16 in hepatocellular carcinoma

Gastroenterology ◽

10.1016/s0016-5085(08)81792-1 ◽

2001 ◽

Vol 120 (5) ◽

pp. A360-A361

Author(s):

Ileana Aderca ◽

Damian P. Montoya ◽

Kurt A. Krummel ◽

David M. Nagorney ◽

David I. Smith ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Fragile Site ◽

Chromosome 16

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A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance

Case Reports in Otolaryngology ◽

10.1155/2015/683938 ◽

2015 ◽

Vol 2015 ◽

pp. 1-3

Author(s):

Christian Grønhøj Larsen ◽

Mette Gyldenløve ◽

Aia Elise Jønch ◽

Birgitte Charabi ◽

Zeynep Tümer

Keyword(s):

Facial Palsy ◽

Autosomal Dominant ◽

Case Series ◽

Neurologic Disorder ◽

Complete Penetrance ◽

Generation Family ◽

Number Variation ◽

Microarray Studies ◽

Idiopathic Facial Palsy ◽

Chromosome Microarray

Idiopathic facial palsy (IFP), also known as Bell’s palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.

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