Discovery of a large deletion of KAL1 in 2 deaf brothers.
OBJECTIVE
Kallmann syndrome (KS) usually combines an anosmia and a hypogonadotrophic hypogonadism. Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family.


METHODS
Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements.


RESULTS
Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. The absence of familial history has been explained by a somatic mosaicism identified in their mother.


CONCLUSIONS
The description of a hearing defect in 2 brothers with Kallmann syndrome allows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients.
*Centre de référence des surdités génétiques, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; †Service de Génétique médicale, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; ‡INSERM UMRS1120; §Département de génétique et d'embryologie médicales, INSERM U933, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Paris; ∥Département de génétique clinique, CHU de Nantes; ¶Service d'ORL pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; #Laboratoire de Génétique moléculaire, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; **Institut de la Vision; ††UPMC, Université Pierre et Marie Curie, Paris 6; and ‡‡Laboratoire de biochimie et biologie moléculaire, Hôpital Trousseau, Assistance Publique Hôpitaux de Paris, Paris, France.
Sandrine
S
Marlin
Sandra
S
Chantot-Bastaraud
Albert
A
David
Natalie
N
Loundon
Laurence
L
Jonard
Marie-France
MF
Portnoï
Crystel
C
Bonnet
Malek
M
Louha
Souad
S
Gherbi
Eréa Noël
EN
Garabedian
Remy
R
Couderc
Françoise
F
Denoyelle
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion; D035781:Siblings
C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins