Ann Lab Med.  2018 Jan;38(1):80-82. 10.3343/alm.2018.38.1.80.

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome

• Kim JY
• Kim SH
• Park MJ
• Kim SH
• Cho WH
• Choi J
• Ki CS
• You SJ

• KMID: 2397610
• DOI: http://doi.org/10.3343/alm.2018.38.1.80

Abstract

No abstract available.

MeSH Terms

Humans
Male*
Sjogren-Larsson Syndrome*

Figure

• 

  Fig. 1 Patient's clinical, ophthalmological, and radiological findings. (A) Brownish hyperkeratosis in the abdominal area. (B) Crystalline retinopathy in both eyes. (C) Increased signal intensity on T2-weighted images lateral, superior, and posterior to both lateral ventricles, especially in the superior aspect. (D) Sharp lipid peak at 1.3 ppm and a small peak at 0.9 ppm by proton MR spectroscopy (1H-MRS).

• 

  Fig. 2 Pedigree and sequence chromatogram of the ALDH3A2 variant identified in this family. (A) Family pedigree shows two affected patients. The elder brother of the proband is deceased. Male, square; female, circle; filled symbols, affected; half-filled symbols, heterozygous carriers; arrow, proband. (B) The patient is homozygous for the ALDH3A2 c.1157A>G (p.Asn386Ser) variant, while both parents are heterozygous carriers of the same variant (arrow).

Reference

1. Rizzo WB, Carney G, Lin Z. The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999; 65:1547–1560. PMID: 10577908.

2. Willemsen MA, Cruysberg JR, Rotteveel JJ, Aandekerk AL, Van Domburg PH, Deutman AF. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome. Am J Ophthalmol. 2000; 130:782–789. PMID: 11124298.

3. Rizzo WB. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab. 2007; 90:1–9. PMID: 16996289.

4. Lee KJ, Kim JB, Lee DH, Shin SM, Lee SJ. Case of Sjogren-Larsson syndrome. J Korean Pediatr Soc. 1994; 37:1757–1761.

5. Lee HJ, Shim DT, Kim YK, Jin SY. A case of Sjögren-Larsson syndrome. Ann Dermatol. 1995; 7:71–74.

6. Shin WK, Ohn YH, Park SH, Shin HH. A case of Sjogren-Larsson syndrome. J Korean Ophthalmol Soc. 1995; 36:1605–1609.

7. Lee JH, Lee J, Choi GS, Koo SW, Kim YK. A case of Sjogren-Larsson syndrome. Korean J Dermatol. 1998; 36:1078–1082.

8. Aoki N, Suzuki H, Ito K, Ito M. A novel point mutation of the FALDH gene in a Japanese family with Sjogren-Larsson syndrome. J Invest Dermatol. 2000; 114:1065–1066. PMID: 10792573.

9. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–424. PMID: 25741868.

10. Li Q, Wang K. InterVar: Clinical interpretation of genetic variants by the 2015 ACMG-AMG guidelines. Am J Hum Genet. 2017; 100:267–280. PMID: 28132688.