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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.


ABSTRACT: Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6-1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.

SUBMITTER: Delio M 

PROVIDER: S-EPMC3591861 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio Maria M   Guo Tingwei T   McDonald-McGinn Donna M DM   Zackai Elaine E   Herman Sean S   Kaminetzky Mark M   Higgins Anne Marie AM   Coleman Karlene K   Chow Carolyn C   Jalbrzikowski Maria M   Bearden Carrie E CE   Bailey Alice A   Vangkilde Anders A   Olsen Line L   Olesen Charlotte C   Skovby Flemming F   Werge Thomas M TM   Templin Ludivine L   Busa Tiffany T   Philip Nicole N   Swillen Ann A   Vermeesch Joris R JR   Devriendt Koen K   Schneider Maude M   Dahoun Sophie S   Eliez Stephan S   Schoch Kelly K   Hooper Stephen R SR   Shashi Vandana V   Samanich Joy J   Marion Robert R   van Amelsvoort Therese T   Boot Erik E   Klaassen Petra P   Duijff Sasja N SN   Vorstman Jacob J   Yuen Tracy T   Silversides Candice C   Chow Eva E   Bassett Anne A   Frisch Amos A   Weizman Abraham A   Gothelf Doron D   Niarchou Maria M   van den Bree Marianne M   Owen Michael J MJ   Suñer Damian Heine DH   Andreo Jordi Rosell JR   Armando Marco M   Vicari Stefano S   Digilio Maria Cristina MC   Auton Adam A   Kates Wendy R WR   Wang Tao T   Shprintzen Robert J RJ   Emanuel Beverly S BS   Morrow Bernice E BE  

American journal of human genetics 20130228 3


Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genoty  ...[more]

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