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Diffuse Lung Disease |

New Mutation of SCL34A2 Gene in a Family With Pulmonary Alveolar Microlithiasis in Libya

Khalid Gaber*, RCP; Shawg Najem, MBChB; Oamran Bader, MBChB; Awad Bendardaf, MS
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Benghazi University, Benghazi, Libyan Arab Jamahiriya


Chest. 2012;142(4_MeetingAbstracts):439A. doi:10.1378/chest.1389808
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Abstract

SESSION TYPE: ILD Posters

PRESENTED ON: Wednesday, October 24, 2012 at 01:30 PM - 02:30 PM

PURPOSE: Mutation of the SCL34A2 is thought to be responsible for pulmonary alveolar microlithiasis (PAM). We describe a new mutation of SCL34A2 gene in a family with PAM in Libya

METHODS: A 41 years old patient was diagnosed with PAM (based on typical CXR, high resolution CT scan of chest and open lung biopsy). Two brothers were later on found to have the same disease. Parents, two clinically normal and the three clinically affected family members were screened for SCL34A2 mutation using PCR and DNA sequencing of exon 6 of SLC34A2 gene (OMIM 604217) for c.593 T>C (Ile198Thr) mutation. Reference sequence: NM_006424.2 (Acibadem Genetic Diagnostic Centre)

RESULTS: Heterozygous c.593 T>C (Ile198Thr) mutation was detected in exon 6 of SLC34A2 gene in parents and clinically normal siblings, where as homozygous c.593 T>C (Ile198Thr) mutation was detected in exon 6 of SLC34A2 gene in the disease confirmed family members. Since the patient’s mother, father and clinically unaffected siblings were carriers and the index case and two affected brothers were homozygous for this mutation, it is very likely that this mutation plays role in the pulmonary alveolar microlithiasis in the affected family members

CONCLUSIONS: A new mutation due to the substitution of isoleucine in codon 198 with threonine is very likely to be responsible for PAM.

CLINICAL IMPLICATIONS: This mutation has not been reported in literature before

DISCLOSURE: Khalid Gaber: Grant monies (from industry related sources): Actelion company paid the cost of laboratory test for the gene study total of 2100 Euros

The following authors have nothing to disclose: Shawg Najem, Oamran Bader, Awad Bendardaf

No Product/Research Disclosure Information

Benghazi University, Benghazi, Libyan Arab Jamahiriya

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