Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome

Meur, Nathalie Le; Goldenberg, Alice; Michel-Adde, Christine; Drouin‐Garraud, Valérie; Blaysat, G.; Marret, Stéphane; Amara, S. Abu; Macé, Bertrand; Kleinfinger, Pascale; Saugier-Veber, Pascale; Frébourg, Thierry; Rossi, Annick

doi:10.1002/ajmg.a.30660

Cited by 14 publications

(12 citation statements)

References 29 publications

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“…For simplicity only the RefSeq/OMIM genes within the SROs are shown. Horizontal black bars show the minimum size (chromosome positions are written above each deletion) and localization of the deletions of the patients reported by: (1) Le Meur et al [2005]; (2) Karnitis et al [1992] and Byth et al [1995], Patient 1 (1251); (3) Yen et al [1989] and Byth et al [1995], Patient 2 (1141); (4) Present case; (5) Schlade‐Bartusiak et al [2008]; (6) Byth et al [1995], Patient 3 (1337); (7) Schlade‐Bartusiak et al [2005], Patient HSC 1953; (8) Zollino et al [2009], Patient 25; (9) Zollino et al [2009], Patient 24; (10) Zollino et al [2009], Patient 22; (11) Zollino et al [2009], Patient 26. Dashed lines indicate the maximum limits of the deletions, except for Patients 8–10, where the maximum limits of the deletions were not reported in the original manuscript [Zollino et al, 2009].…”

Section: Resultsmentioning

confidence: 99%

“… a The details of the facial dysmorphic features have not been described for patients 8–11 [Zollino et al, 2009]. Patients: 1, Le Meur et al [2005]; 2, Karnitis et al [1992]/Byth et al [1995] (Patient 1); 3, Yen et al [1989]/Byth et al [1995] (Patient 2); 4, Present case; 5, Schlade‐Bartusiak et al [2008]; 6, Byth et al [1995] (Patient 3); 7, Schlade‐Bartusiak et al [2005]; 8, Zollino et al [2009] (Patient 25); 9, Zollino et al [2009] (Patient 24); 10, Zollino et al [2009] (Patient 22); 11, Zollino et al [2009] (Patient 26). …”

Section: Introductionmentioning

confidence: 99%

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Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Cingoz

Bache

Bjerglund

et al. 2010

American J of Med Genetics Pt A

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Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Cingoz

Bache

Bjerglund

et al. 2010

American J of Med Genetics Pt A

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“…Common internal malformations include atrial septal defect, cryptorchidism and various skeletal malformations [reviewed in Gorski et al, 1990]. In two patients, deletion of the q24 band has been associated with the phenotype of Holt‐Oram syndrome [Turleau et al, 1984; Le Meur et al, 2005].…”

Section: Introductionmentioning

confidence: 99%

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

Schlade-Bartusiak

Macintyre

Zunich

et al. 2007

American J of Med Genetics Pt A

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An interstitial deletion in the middle and distal part of chromosome 14 is a rare chromosomal abnormality characterized by a wide spectrum of phenotypic manifestations. We present a patient with a nearly 20 Mb interstitial deletion of chromosome 14q24.3q32.13 determined by FISH, that is associated with minor dysmorphic features, developmental delay, absent speech and auditory neuropathy. The deleted region contains 130 known genes, among them 48 with reported function or association with human disease. The patient's phenotype is compared with interstitial deletions of the distal part of chromosome 14 reported previously. We hypothesize, that there is (are) a gene (genes) in the 14q32.11-q32.13 that is (are) important for the hearing process and for which haploinsufficiency can cause auditory neuropathy. Several genes in the region, among them calmodulin, chromogranin A, the goosecoid and FOXN3, can contribute to the observed phenotype. Detailed mapping in additional patients with 14q32 deletions and hearing loss could further define the candidate region.

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“…Furthermore, 70% of those patients fulfilling strict criteria show a mutation in TBX5 on 12q24.1. Thus, there might be a second locus for this syndrome at 14q23.3q31.1 [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype

et al. 2014

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BackgroundFew patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic alterations.ResultsWe describe a de novo 14q interstitial deletion in a 6-year-old boy with dysmorphic facial traits such as hypertelorism, short and narrow palpebral fissures, broad nose with anteverted nostrils, long philtrum, thin upper lip with cupid’s bow, prominent and everted lower lip, mildly low-set ears, as well as moderate developmental delay and mild mental retardation. Array-CGH mapped the deletion to the region 14q24.3 to 14q31.3, including 13.11 Mb, proximal to the imprinted genomic region of 14q32.ConclusionThis mild phenotypic presentation suggests that the deleted segment does not contain essential genes for early organ development. Twenty-two genes with known functions, including Neurexin III (NRXN3, OMIM 600567), map to the region deleted in the propositus.

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Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome

Cited by 14 publications

References 29 publications

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype

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