Maternal isodisomy for 14q21‐q24 in a man with diabetes mellitus

Abstract

We report a 20-year-old man with maternal uniparental disomy for chromosome 14 (UPD14) and maturity-onset diabetes mellitus (DM). He had pre- and postnatal growth retardation, developed DM at age 20 years without any autoimmune antibodies, and had a mosaic 45,XY,der(14;14)(q10;q10)[129]/46,XY,+14,der(14;14)(q10;q10)[1] karyotype. Allelotyping using microsatellite markers covering the entire 14q indicated segmental maternal isodisomy for 14q21-q24 and maternal heterodisomy of the remaining regions of the chromosome. It is thus tempting to speculate that the segmental isodisomy led to reduction to homozygosity for a mutant gene and thus caused his DM, although the possibility of coincidental occurrence of the two events cannot totally be ruled out. Fluorescence in situ hybridization (FISH) analysis using BAC clone probes revealed that the isodisomic segment did not overlap any known IDDM or NIDDM susceptibility loci on chromosome 14, suggesting a novel locus for a subset of DM at the isodisomic segment.

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

“…Of 15 patients over the age of 11 years, 3 developed diabetes mellitus; at the ages of 12 years,6 19 years25 and 20 years 31. All three patients were described as having features of type 2 diabetes, and one case was confirmed as negative for antipancreatic antibodies.…”

“…All three patients were described as having features of type 2 diabetes, and one case was confirmed as negative for antipancreatic antibodies. Where treatment was described, oral hypoglycaemics were effective 31. BMI was significantly raised in two of the three patients (BMI 40.86 and 30.825); however, the third had a normal BMI of 24.1 31…”

Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

“…Two cases were ascertained by autosomal recessice disorders, alpha1 antitrypsin deficiency in one [Blayau et al, 2002] and rod monochromacy in the other [Pentao et al, 1992]. Psychomotor development and intelligence are variable and range from normal [Temple et al, 1991;Pentao et al, 1992;Coviello et al, 1996;Link et al, 1996;Desilets et al, 1997;Splitt and Goodship, 1997;Fokstuen et al, 1999;Hordijk et al, 1999;Worley et al, 2001;Giunti et al, 2002] or almost normal Tomkins et al, 1996;Sanlaville et al, 2000] to moderate mental retardation Barton et al, 1996;Kayashima et al, 2002;Cox et al, 2004]. UPD 14 is specific as many cases are associated with a Robertsonian translocation.…”

“…Other anomalies such as a bifid uvula [Temple et al, 1991], a cleft palate [Barton et al, 1996], a persistent ductus arteriosus [Miyoshi et al, 1998], or hypogonadism [Link et al, 1996] were rarely reported. MODY (maturity-onset diabetes of the young) has been described in two cases [Manzoni et al, 2000;Kayashima et al, 2002]. Two cases were ascertained by autosomal recessice disorders, alpha1 antitrypsin deficiency in one [Blayau et al, 2002] and rod monochromacy in the other [Pentao et al, 1992].…”

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

“…The exact prevalence of these conditions is unknown, and there are less than 100 cases of TS14, and fewer than 50 cases of mosaic trisomy 14 described in the literature [Ioannides et al, 2014;Salas-Labadia et al, 2014;Kagami et al, 2017]. A mole cularly and cytogenetically confirmed combination of UPD(14)mat and mosaic trisomy 14 have been currently reported only in 8 live-born cases [Antonarakis et al, 1993;Kayashima et al, 2002;Cox et al, 2004;Pecile et al, 2015;Stalman et al, 2015;Balbeur et al, 2016;Zhang et al, 2016;Ushijima et al, 2017].…”