A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies

Demir, Yavuz; Şamlı, Hale; Yücel, Aylin; Yılmaz, Mustafa; Haktanır, Nurten Turhan; Maralcan, Gökhan; Solak, Mustafa

doi:10.1002/ajmg.a.31147

Cited by 4 publications

(1 citation statement)

References 14 publications

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“…Heritable syndactylism or oligodactylism has been reported in rats and mice (Kaneda et al 1995;Johnson et al 1998;Chaudhry et al 2001). Spontaneous renal agenesis has been reported in various species: mouse (Gluecksohn-Schoenheimer 1943;Bullock et al 1998;Gestblom et al 1999;Kamba et al 2001), rat (Marshall et al 1978), alpaca (Poulsen et al 2006) and human (McLeod et al 2001;Barroeta and Stopyra 2004;Demir et al 2006). As mutations that resemble the present mutant in their phenotypes, mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects (Woychik et al 1990).…”

Section: Discussionmentioning

confidence: 96%

Syndactyly lethal: New mutation with multiple malformations occurring in Sprague Dawley rats

Fujii¹,

Yabe²,

Kimura³

et al. 2009

Congenital Anomalies

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We previously found newborns exhibiting syndactyly of both fore- and hindlimbs in a litter from a pair of Sprague Dawley rats. Continuous breeding of the parental animals yielded pups with the same anomaly in following litters, suggesting that the syndactyly was genetic in origin. In the present study, as all the syndactylous pups died on postnatal day 0, we conducted genetic analyses using 30 phenotypically normal female progeny and the sire. The females were subjected to caesarean section on day 20 of gestation and the fetuses were examined for the phenotypes. The results of the mating experiments suggest that the mutant phenotype is caused by a single autosomal recessive gene at a homozygous condition. As homozygous mutants are lethal at the neonatal stage, the mutant gene was named syndactyly lethal, gene symbol syl. The mutant rats have multiple abnormalities, such as syndactyly, micrognathia, fused/absent/small lung lobes, absent kidney and ureter, small spleen, small uterus, fused phalanges, sternoschisis, absent/detached rib, and splitting/fused/absent/small thoracic vertebra, some of which must be the cause of death on postnatal day 0. This mutant is considered to be useful for investigating the mechanisms and/or pathogenesis of syndactyly, as well as the accompanying malformations.

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Section: Discussionmentioning

confidence: 96%

Syndactyly lethal: New mutation with multiple malformations occurring in Sprague Dawley rats

Fujii¹,

Yabe²,

Kimura³

et al. 2009

Congenital Anomalies

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A new syndrome of microtia with unilateral renal agenesis and short stature

Çağlayan

Stevens

Albrechts

et al. 2012

American J of Med Genetics Pt A

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We report on a 13-month-old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum), and agenesis of the left kidney and a small right kidney. Clinical findings did not match any previously described syndromes with the anomalies seen in the patient. We performed SNP array analysis to characterize the observation as a novel syndrome and this was normal. We propose that this represents a new syndrome, likely of autosomal recessive inheritance.

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Renal ultrasound abnormalities in children with syndromic and non-syndromic microtia

Koenig

Amoils

Grade

et al. 2018

International Journal of Pediatric Otorhinolaryngology

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A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies

Cited by 4 publications

References 14 publications

Syndactyly lethal: New mutation with multiple malformations occurring in Sprague Dawley rats

Syndactyly lethal: New mutation with multiple malformations occurring in Sprague Dawley rats

A new syndrome of microtia with unilateral renal agenesis and short stature

Renal ultrasound abnormalities in children with syndromic and non-syndromic microtia

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