Ann Lab Med.  2021 May;41(3):346-349. 10.3343/alm.2021.41.3.346.

Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea

• Namgoong H
• Ki CS
• Hyun H
• Yoo IH
• Cho WK
• Lee JH
• Oh JH

• KMID: 2512697
• DOI: http://doi.org/10.3343/alm.2021.41.3.346

Figure

• 

  Fig. 1 Physical and radiographic features of the patient. (A) The patient’s growth curve shows extremely short stature with poor growth response to growth hormone treatment during the follow-up period. (B) The skeletal radiographic features of this patient revealed subtle cupping and widening at the metaphysis of both metacarpal bones, phalanges, and ulnae, as well as (C) an expanded and irregular costochondral junction in the chest.

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  Fig. 2 Integrated genome browser snapshot of the RNA component of mitochondrial RNA-processing endoribonuclease (RMRP) gene variants. The orientation of RMRP is in the reverse direction, so that the n.100C > T variant is on the left and the n.81G > A variant is on the right. The distance between both variants is 19 bp, meaning that many of the variants exist on the same sequence reads, thus confirming the compound heterozygosity of the two variants. The red dotted boxes indicate sequence reads with only the n.100C > T variant, while the blue dotted boxes indicate sequence reads with only the n.81G > A variant.

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